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. 2021 Mar 25;12(4):478. doi: 10.3390/genes12040478

Table A2.

Detailed diagnostic information of NIPS–CNVs/RATs results and follow-up study.

No. GA NIPS Results NIPS-Sizes Karyotyping-Fetus SNP Microarray-
Fetus		 TP/
FP		 Follow-up Maternal Diseases
Part 1: CNVs (≥5 Mb)
1. 19 chr21- chr21:15500000_22999999_loss_mat/fetal (7.5 Mb);
chr21:23500000_29499999_gain_fetal (6 Mb);
chr21:32000000_47999999_loss_fetal (16 Mb)		 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
2. 17 chr21- chr21:15500000_47999999_loss_fetal (32.5 Mb) 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
3. 19 chr18- chr18:63000000_77999999_loss_fetal (15 Mb) 46,XN arr10p15.3p14(135708-8975723)x3;
arr18q22.1q23(63490350-78014582)x1,
pathogenic		 TP TOP/limb anomalies ―
4. 18 chr18- chr18:50000000_77999999_loss_fetal (28 Mb) 46,XN,del(18)(q21)[45]/46,XN [5] arr 18q21.2q23(53260732-77931598)x1,
pathogenic		 TP TOP ―
5. 16 chr18- chr18:0_6999999_loss_mat/fetal (7 Mb) 46,XN,del(18)(p11.3) arr 18p11.31p11.32(12842-6759762)x1,
pathogenic		 TP Liveborn/normal ―
6. 19 chr18- chr18:55500000_77999999_loss_fetal (22.5 Mb);
chr8:135000000_146499999_gain_mat/fetal (11.5 Mb)		 46,XN,der(18)t(8,18)(q24,q21) arr 8q24.2q24.3(135140240-146293086)x3;
arr 18q21.3q23(55448382-78014582)x1,
pathogenic		 TP TOP ―
7. 17 chr13- chr13:19500000_32999999_gain_mat/fetal (13.5 Mb);
chr13:91500000_114999999_loss_fetal (23.5 Mb)		 46,XN ― FP Liveborn/normal ―
8. 24 chr13- chr13:55000000_71499999_gain_fetal (16 Mb);
chr13:85000000_90999999_loss_mat/fetal (6 Mb)		 46,XN ― FP Liveborn/normal ―
9. 17 chr4+ chr4:500000_8999999_gain_fetal (8.5 Mb); ― ― ― Miscarriage ―
10. 16 chr14+ chr14:20500000_107499999_gain_mat/fetal (87 Mb); 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
11. 17 chr7+ chr7:0_56999999_gain_fetal (57 Mb);
chr7:65500000_158999999_gain_fetal (93.5 Mb)		 46,XN ― FP Liveborn/normal ―
12. 18 chr8+ chr8:12500000_42499999_gain_fetal (30 Mb);
chr8:47500000_146499999_gain_fetal (99 Mb)		 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
13. 20 chr9+ chr9:0_5499999_gain_mat/fetal (5.5 Mb) 46,XN arrXp22.32p22.31(5919409-8452482)x3,
variants of uncertain significance		 FP Liveborn/normal ―
Part 2: RATs
1. 17 chr21- ― 46,XN ― FP Liveborn/normal ―
2. 16 chr21- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
3. 19 chr21- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
4. 17 chr21- ― 46,XN arr21q22.3(44769969-46720010)x1,
variants of uncertain significance		 TP Liveborn/normal ―
5. 19 chr18- ― 46,der(18)dup(18)(q11q22)del(18)(q22q23) arr18q11.2q22.2(24719986-68043316)x3;
arr18q22.2q23(68050903-78014582)x1,
pathogenic		 TP TOP/polyhydramnios ―
6. 16 chr18- ― ― ― ― Liveborn/normal ―
7. 18 chr18- ― 46,XN arr18q23(74,231,996-78,014,582)x1;
arr18q23(74227095-77129563)x1,
like pathogenic		 TP Liveborn/refuse ―
8. 15 chr18- ― 46,XN arr18q22.1q22.2(63959330-67189360)x1,
like pathogenic		 TP Liveborn/preterm labor, low weigh, small head circumference ―
9. 17 chr18- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
10. 18 chr18- ― ― ― ― Liveborn/normal ―
11. 20 chr13- ― 46,XN ― FP Liveborn/normal ―
12. 16 chr13- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
13. 21 chr13- ― ― ― ― Liveborn/normal ―
14. 15 chr1+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
15. 16 chr22+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
16. 17 chr7+ ― 46,XN ― FP Liveborn/normal ―
17. 18 chr14+ ― ― ― ― Liveborn/normal ―
18. 17 chr17+ ― ― ― ― Liveborn/normal ―
19. 15 chr9+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
20. 18 chr14- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
21. 16 chr7+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
22. 18 chr8+ ― ― ― ― Liveborn/normal ―
23. 21 chr7+ ― 46,XN arr16p13.12p13.3(110925-13904865)x2,hmz, variants of uncertain significance FP Liveborn/normal ―
24. 16 chr3+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
25. 19 chr20+ ― ― ― ― Liveborn/normal ―
26. 17 chr1+ ― ― ― ― Liveborn/normal ―
27. 20 chr7+ ― ― ― ― TOP ―
28. 18 chr16- ― ― ― ― Liveborn/normal ―
29. 14 chr8+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
30. 13 chr11+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
31. 12 chr7+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
32. 30 chr8+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
Part 2: RATs (Multis)
33. 16 T21(mos),T13(Mos) ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
34. 20 T21,chrX- ― 47,XN,+21 ― TP TOP Normal
35. 16 T21,46,XY(delX) ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
36. 22 T21,T18,T13,chr1+,chr2+,chr3+,chr4+,chr5+,chr6+,chr7-,chr8+,chr9+,chr12+,chr14+,chr16+,chr20+ ― 46,XN ― FP Liveborn/normal Aplastic anemia/Chinese herbal treatment
37. 17 T21(mos),T13(mos),chr4+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
38. 18 T21,XXX,chr1+/−,chr12-,chr13- chr1:21000000_56499999_loss_fetal (35.5 Mb);
chr1:152500000_183999999_gain_fetal (31.5 Mb);
chr1:198500000_223999999_gain_fetal (25.5 Mb);
chr1:224500000_248999999_loss_fetal (24.5 Mb);
chr12:43000000_49499999_loss_fetal (6.5Mb);
chr12:73500000_81999999_loss_fetal (8.5 Mb);
chr12:87500000_92999999_loss_fetal (5.5 Mb);
chr13:19500000_55499999_loss_fetal (35 Mb);
chr13:94500000_114999999_loss_fetal (20.5 Mb)		 47,XN,+21 arr(21)x3 TP TOP/abnormal US (no exact details) Normal
39. 18 T21(mos),chr1+/−,chr2+,chr4-,chr5-,chr6+,chr7+,chr8-,chr9+,chr10-,chr12+,chr13-,chr16-,chr19+/− chr1:15000000_120499999_loss_fetal (105.5 Mb);
chr1:150000000_248499999_gain_fetal (98.5 Mb);
chr4:0_26999999_loss_fetal (27 Mb);
chr6:158000000_170999999_gain_fetal (13 Mb);
chr8:0_32499999_loss_fetal (24.5 Mb);
chr9:1000000_34999999_gain_fetal (34 Mb);
chr10:1000000_38499999_loss_fetal (37.5 Mb);
chr10:54000000_123999999_loss_fetal (70 Mb);
chr19:500000_24499999_gain_mat/fetal (24 Mb);
chr19:28000000_58999999_loss_fetal (31 Mb)		 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
40. 16 T18,T13,chr5+/−,chr6+,chr8+,chr9+,chr11+,chr14+,chr17-,chr20+ chr5:17500000_46499999_gain_fetal (16 Mb);
chr5:49500000_180499999_loss_mat/fetal (131 Mb);
chr17:0_7499999_loss_mat/fetal (7.5 Mb)		 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
41. 17 T18,XXY ― 48,XXY,+18 arr(18)x3,(X)x2,(Y)x1 TP TOP ―
42. 20 T18, XXY ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
43. 24 T18,T13,chr1-,chr2+,chr5+,chr17- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Gallstone
44. 20 T18,T13,chr21- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal ―
45. 18 T18(mos),T13(mos),chr4+,chr5+,chr8+,chr15+,chr17+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
46. 17 T18, chr1+,chr2,chr7+,
chr8+,chr9,chr10-,chr14-,chr16-		 ― 46,XN,1qh+,t(8;12)(q11;q21) arr18q12.1q21.2(30255638-48336327)x2,hmz,
variants of uncertain significance		 TP TOP ―
47. 16 T18,chrX+ ― ― ― ― Miscarriage ―
48. 16 T13,chrX-,chr1-,chr2-,chr3-,chr4-,chr5-,chr6+,chr7-,chr8+,chr9-,chr10+,chr11-,chr12-,chr14+,chr16-,chr17+,chr18-,chr20+,chr21-,chr22+ ― 46,XN ― FP Liveborn/normal ―
49. 20 T13mos,chr6+,chr15-,chr16-,chr17-,chr20-,chr22- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
50. 16 T13,chrX+,chr1-,chr8+,chr17-,chr22- ― 46,XN ― FP Liveborn/normal Normal
51. 24 46,XY(delX),chr13-,chr4-,chr8- ― ― ― ― Liveborn/normal Normal
52. 17 chr8-,chr17+,chr18-,chr19+ ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
53. 12 chrX-,chr4-,chr13- ― 46,XN arr 16q23.1q23.2(78,173,154-79,354,550)x3,
variants of uncertain significance		 FP Liveborn/normal Normal
54. 21 chrX-,chr2-,chr3-,chr6-,chr7-,chr8+,chr9-,chr10-,chr11-,chr12-,chr13-,chr18-, chr21- ― 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
55. 18 chr1-,chr7+,chr10-,chr17-, chr18- chr7:0_56999999_gain_fetal (57 Mb);
chr7:65500000_158999999_gain_fetal (93.5 Mb)		 46,XN arr(1-22)x2,(XN)x1 FP Liveborn/normal Normal
56. 21 chr2-,chr4-,chr5+,chr6-,chr17-,chr20-,chr21- chr4:134800000_190799999_loss_fetal (56 Mb);
chr5:87000000_102199999_gain_fetal (15.2 Mb);
chr6:22000000_29499999_loss_fetal (7.5 Mb);
chr17:10200000_21299999_loss_fetal (11.1 Mb);
chr20:5300000_16099999_loss_fetal (10.8 Mb)		 46,XN arr5q14.2q15(82201161-94331486)x2,hmz,
variants of uncertain significance		 TP Liveborn/normal Normal

NIPS, noninvasive prenatal screening; TP, true positive; FP, false positive; GA, gestational age; CNVs, copy number variants; RATs, rare autosomal aneuploidies; Multis, multiple chromosome abnormalities; TOP, termination of pregnancy; US, ultrasound.